MYH7 c.2734A>C ;(p.K912Q)

Variant ID: 14-23893304-T-G

NM_000257.2(MYH7):c.2734A>C;(p.K912Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: MYH7: K912Q; rs730880758
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MYH7: 2734A>C; K912Q
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients.

Journal Of Clinical Laboratory Analysis
Zigova, Michaela M; Bernasovska, Jarmila J; Boronova, Iveta I; Mydlarova Blascakova, Marta M; Kmec, Jan J
Publication Date: 2018-03

Variant appearance in text: MYH7: 2734A>C; Lys912Gln; rs730880758
PubMed Link: 28815794
Variant Present in the following documents:
  • Main text
View BVdb publication page